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Cellosaurus Fern (CVCL_B7LZ)

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Cell line name Fern
Accession CVCL_B7LZ
Resource Identification Initiative To cite this cell line use: Fern (RRID:CVCL_B7LZ)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7067; CIITA; Simple; p.Phe962Ser (c.2885T>C) (F961S); Zygosity=Homozygous (PubMed=10501838).
Disease Bare lymphocyte syndrome type 2 (NCIt: C171268)
Immunodeficiency by defective expression of MHC class II (ORDO: Orphanet_572)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Age at sampling 27Y
Category Transformed cell line
Publications

PubMed=10501838; DOI=10.1007/s002510050579
Virginia Quan, Michael Towey, Steven Sacks, Adrian P. Kelly;
Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.
Immunogenetics 49:957-963(1999)

Cross-references
Encyclopedic resources Wikidata; Q112929561
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5